TABLE 2.
Clinical charactersitics and cystic fibrosis transmembrane conductance regulator (CFTR) mutations
| Case | Sweat chloride, mmol/L | Sinus disease | Bronchiectasis | Ciliary beat frequency | Immunoglobulins | CFTRmutation |
|---|---|---|---|---|---|---|
| 1 | 30 | Absent | Present | Not tested | Normal | Hetero for 1 disease causing Gly551Asp; Hetero for 4 polymorphisms: Thr854Thr, Gln1463Gln, 1001+11C→T and 6-GATT/7-GATT; Homo for one polymorphism: Val470Met |
| 2 | 24 | Present | None | Normal | Immunoglobulin E 7000 (ABPA) | Hetero for 1 disease causing Phe508del; Hetero for 3 polymorphisms: 125G→C, Thr854Thr, 1001+11C→T; Homo for two polymorphisms: Met470Val and 6-GATT; Intron 8T tract status: 7T/9T |
| 3 | 31 | Present | Present | Normal | Normal | Hetero for one polymorphism: Val470Met; Homo for two polymorphisms: 7-GATT/7-GATT; Intron 8T tract status: 5T/7T |
| 4 | 29 | Present | Present | Normal | Normal | Hetero for one disease causing Arg117His; Intron 8T tract status: 5T/7T |
ABPA Allergic bronchopulmonary aspergillosis; del Deletion; Hetero Heterozygous; Homo Homozygous